Varaico: Literature-Extracted Genetic Variants

IKBKG

757 papers

RefSeq Summary

This gene encodes the regulatory subunit of the inhibitor of kappaB kinase (IKK) complex, which activates NF-kappaB resulting in activation of genes involved in inflammation, immunity, cell survival, ...

Pfam Domains

NEMOaa 44–111UCSCNF-kappa-B essential modulator NEMO

CC2-LZaa 248–344UCSCLeucine zipper of domain CC2 of NEMO, NF-kappa-B essential modulator

zf_C2H2_10aa 393–418UCSCC2H2 type zinc-finger

Gene Aliases

HGNC Name

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

HGNC Previous Symbols

IP2; IP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_001099857.5

p.L322P

c.965T>C

Surrounding Variants

1 paper

NM_001099857.5

p.L322Q

c.965T>A

14 papers

NM_001099857.5

p.A323P

c.967G>C

1 paper

NM_001099857.5

p.A323D

c.968C>A

1 paper

NM_001099857.5

p.K321fs

c.961_962fs

1 paper

NM_001099857.5

p.K321fs

c.961_962fs

2 papers

NM_001099857.5

p.K326del1

c.976_977delAAG

2 papers

NM_001099857.5

p.E320A

c.959A>C

1 paper

NM_001099857.5

p.E324A

c.971A>C

2 papers

NM_001099857.5

p.E320Q

c.958G>C

1 paper

NM_001099857.5

p.E320insFs

c.958_959insT

1 paper

NM_001099857.5

p.K325R

c.974A>G

25 papers

NM_001099857.5

p.R319Q

c.956G>A